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[孤立性肌阵挛发作或与其他类型发作相关的儿童的诊断重点]

[Diagnostic focus on the child with myoclonic seizures in isolation or associated with other types of seizures].

作者信息

Herranz J L, de las Cuevas I

机构信息

Servicio de Neuropediatría, Hospital Universitario Marqués de Valdecilla, Facultad de Medicina, Santander, España.

出版信息

Rev Neurol. 1998 Feb;26(150):301-7.

PMID:9563099
Abstract

Myoclonus may be observed in children with mild or severe epileptic syndromes. Both types are seen at characteristic ages, together with other factors: aetiology, family history, hereditary pattern, effect on psychomotor development and EEG-EMG findings. In children with progressive or degenerative encephalopathies and myoclonus, better known as progressive myoclonic epilepsy, there are also specific clinical data, together with biological and genetic markers which permit identification. The most specific clinical characteristics of each of these clinical pictures are described, as are the complementary tests which permit confirmation of these diagnoses.

摘要

在患有轻度或重度癫痫综合征的儿童中可能会观察到肌阵挛。这两种类型在特定年龄出现,同时伴有其他因素:病因、家族史、遗传模式、对精神运动发育的影响以及脑电图 - 肌电图检查结果。在患有进行性或退行性脑病及肌阵挛的儿童中,也就是更为人熟知的进行性肌阵挛癫痫,也有特定的临床数据以及生物学和基因标志物,可用于识别。文中描述了每种临床表现的最具体临床特征,以及有助于确诊这些疾病的辅助检查。

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